ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)

gnomAD frequency: 0.00004  dbSNP: rs557642490
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364475 SCV001560625 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 96 of the USH2A protein (p.Thr96Ala). This variant is present in population databases (rs557642490, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055749). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001364475 SCV001802883 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002547822 SCV003659091 uncertain significance Inborn genetic diseases 2022-11-19 criteria provided, single submitter clinical testing The c.286A>G (p.T96A) alteration is located in exon 2 (coding exon 1) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 286, causing the threonine (T) at amino acid position 96 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003450021 SCV004182991 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826031 SCV004182992 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826031 SCV002094031 uncertain significance Usher syndrome type 2A 2020-02-27 no assertion criteria provided clinical testing

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